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Rare Diseases Day 2015

On Friday 27 February, the National Institute for Health Research (NIHR) Respiratory Biomedical Research Unit, along with hundreds of organisations around the world, marked International Rare Disease Day with the aim to raise awareness among the general public about rare diseases.

With the support of the NIHR Rare Diseases Translational Research Collaboration, staff from the respiratory BRU provided information on projects involving patients with Alpha 1 anti-trypsin deficiency and cystic fibrosis, as well as the Trust’s involvement in the 100,000 genome project as part of the Imperial College Health Partners Genomic Medical Centre (GMC). The 100,000 genome project is a national initiative which aims to sequence the genomes of 100,000 individuals with rare diseases and cancer, to enable new scientific discovery and medical insights for the benefit of patients.

Professor Eric Alton, director of the NIHR Royal Brompton Respiratory BRU, also leads the respiratory theme of the NIHR Rare Diseases Translational Research Collaboration (RD-TRC), which aims to further develop the NHS research infrastructure to support patient-centred research into rare diseases leading to national databases accessible both to academia and industry.

Professor Alton said “Royal Brompton has a long-standing, close association with rare diseases so we are particularly pleased to host an event underlining the importance of research into these conditions.”